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本文引用的文献

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Mapping of available health research and development data: what's there, what's missing, and what role is there for a global observatory?现有卫生研发数据的绘制:有哪些数据、缺少哪些数据,以及全球观察站可发挥何种作用?
Lancet. 2013 Oct 12;382(9900):1286-307. doi: 10.1016/S0140-6736(13)61046-6. Epub 2013 May 20.
2
GBD 2.0: a continuously updated global resource.全球疾病负担研究2.0版:一个持续更新的全球资源。
Lancet. 2013 Jul 6;382(9886):9-11. doi: 10.1016/S0140-6736(13)60225-1. Epub 2013 May 17.
3
Prevalence of a healthy lifestyle among individuals with cardiovascular disease in high-, middle- and low-income countries: The Prospective Urban Rural Epidemiology (PURE) study.高、中、低收入国家心血管疾病患者健康生活方式的流行情况:前瞻性城乡流行病学(PURE)研究。
JAMA. 2013 Apr 17;309(15):1613-21. doi: 10.1001/jama.2013.3519.
4
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.基因组和表型全基因组分析发现心脏传导标志物与心律失常风险相关。
Circulation. 2013 Apr 2;127(13):1377-85. doi: 10.1161/CIRCULATIONAHA.112.000604. Epub 2013 Mar 5.
5
Decomposing phenotype descriptions for the human skeletal phenome.分解人类骨骼表型组的表型描述
Biomed Inform Insights. 2013;6:1-14. doi: 10.4137/BII.S10729. Epub 2013 Feb 4.
6
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.为人类表型组计划做准备:人类变异组计划 2012 年论坛。
Hum Mutat. 2013 Apr;34(4):661-6. doi: 10.1002/humu.22293.
7
A PheWAS approach in studying HLA-DRB1*1501.研究 HLA-DRB1*1501 中的 PheWAS 方法。
Genes Immun. 2013 Apr;14(3):187-91. doi: 10.1038/gene.2013.2. Epub 2013 Feb 7.
8
Tackling non-communicable diseases in low- and middle-income countries: is the evidence from high-income countries all we need?应对中低收入国家的非传染性疾病:高收入国家的证据是否就是我们所需要的全部?
PLoS Med. 2013;10(1):e1001377. doi: 10.1371/journal.pmed.1001377. Epub 2013 Jan 29.
9
Systems biology approach reveals genome to phenome correlation in type 2 diabetes.系统生物学方法揭示 2 型糖尿病的基因组与表型相关性。
PLoS One. 2013;8(1):e53522. doi: 10.1371/journal.pone.0053522. Epub 2013 Jan 7.
10
Phenome based analysis as a means for discovering context dependent clinical reference ranges.基于表型组的分析作为发现上下文相关临床参考范围的一种手段。
AMIA Annu Symp Proc. 2012;2012:1441-9. Epub 2012 Nov 3.

贯穿表型组学的生物库研究 - 慢性病研究的核心。

Biobanking across the phenome - at the center of chronic disease research.

机构信息

Swiss Tropical and Public Health Institute, Basel, Switzerland.

出版信息

BMC Public Health. 2013 Nov 25;13:1094. doi: 10.1186/1471-2458-13-1094.

DOI:10.1186/1471-2458-13-1094
PMID:24274136
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4222669/
Abstract

BACKGROUND

Recognized public health relevant risk factors such as obesity, physical inactivity, smoking or air pollution are common to many non-communicable diseases (NCDs). NCDs cluster and co-morbidities increase in parallel to age. Pleiotropic genes and genetic variants have been identified by genome-wide association studies (GWAS) linking NCD entities hitherto thought to be distant in etiology. These different lines of evidence suggest that NCD disease mechanisms are in part shared.

DISCUSSION

Identification of common exogenous and endogenous risk patterns may promote efficient prevention, an urgent need in the light of the global NCD epidemic. The prerequisite to investigate causal risk patterns including biologic, genetic and environmental factors across different NCDs are well characterized cohorts with associated biobanks. Prospectively collected data and biospecimen from subjects of various age, sociodemographic, and cultural groups, both healthy and affected by one or more NCD, are essential for exploring biologic mechanisms and susceptibilities interlinking different environmental and lifestyle exposures, co-morbidities, as well as cellular senescence and aging. A paradigm shift in the research activities can currently be observed, moving from focused investigations on the effect of a single risk factor on an isolated health outcome to a more comprehensive assessment of risk patterns and a broader phenome approach. Though important methodological and analytical challenges need to be resolved, the ongoing international efforts to establish large-scale population-based biobank cohorts are a critical basis for moving NCD disease etiology forward.

SUMMARY

Future epidemiologic and public health research should aim at sustaining a comprehensive systems view on health and disease. The political and public discussions about the utilitarian aspect of investing in and contributing to cohort and biobank research are essential and are indirectly linked to the achievement of public health programs effectively addressing the global NCD epidemic.

摘要

背景

肥胖、身体活动不足、吸烟或空气污染等公认的与公众健康相关的风险因素,是许多非传染性疾病(NCD)共有的。随着年龄的增长,NCD 会聚集并伴发多种疾病。全基因组关联研究(GWAS)已经发现了多效基因和遗传变异,将以前认为在病因学上相距甚远的 NCD 实体联系起来。这些不同的证据表明,NCD 疾病机制在某种程度上是共享的。

讨论

识别常见的外源性和内源性风险模式可以促进有效的预防,这是在全球 NCD 流行的情况下急需的。调查包括生物、遗传和环境因素在内的因果风险模式的前提是具有相关生物库的特征明确的队列。从各种年龄、社会人口和文化群体的健康和受一种或多种 NCD 影响的受试者中前瞻性收集数据和生物样本,对于探索不同环境和生活方式暴露、共病以及细胞衰老和老化之间相互关联的生物学机制和易感性至关重要。目前可以观察到研究活动的范式转变,从对单个风险因素对孤立健康结果的影响的集中调查转向对风险模式的更全面评估和更广泛的表型方法。尽管需要解决重要的方法和分析挑战,但正在进行的建立大型基于人群的生物库队列的国际努力,是推动 NCD 疾病病因学向前发展的关键基础。

总结

未来的流行病学和公共卫生研究应旨在维持对健康和疾病的综合系统观点。关于投资和为队列和生物库研究做出贡献的功利方面的政治和公众讨论是必要的,并且与有效应对全球 NCD 流行的公共卫生计划的实现间接相关。